serine has been researched along with Congenital Hand Deformities in 3 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
Excerpt | Relevance | Reference |
---|---|---|
"[1996: Am J Med Genet 66:138-143] as Pfeiffer syndrome type III with normal thumbs." | 1.30 | Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. ( Bartlett, SP; Gripp, KW; Katowitz, JA; Markowitz, RI; McDonald-McGinn, DM; Muenke, M; Stolle, CA; Zackai, EH, 1998) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 3 (100.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Oldridge, M | 1 |
Lunt, PW | 1 |
Zackai, EH | 2 |
McDonald-McGinn, DM | 2 |
Muenke, M | 2 |
Moloney, DM | 1 |
Twigg, SR | 1 |
Heath, JK | 1 |
Howard, TD | 1 |
Hoganson, G | 1 |
Gagnon, DM | 1 |
Jabs, EW | 1 |
Wilkie, AO | 1 |
Gripp, KW | 1 |
Stolle, CA | 1 |
Markowitz, RI | 1 |
Bartlett, SP | 1 |
Katowitz, JA | 1 |
Passos-Bueno, MR | 1 |
Richieri-Costa, A | 1 |
SertiƩ, AL | 1 |
Kneppers, A | 1 |
3 other studies available for serine and Congenital Hand Deformities
Article | Year |
---|---|
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Topics: Adult; Child; Craniosynostoses; Dipeptides; Female; Foot Deformities, Congenital; Genotype; Hand Def | 1997 |
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Amino Acid Substitution; Cysteine; Elbow; Eye Abnor | 1998 |
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
Topics: Acrocephalosyndactylia; Child, Preschool; Foot Deformities, Congenital; Hand Deformities, Congenital | 1998 |